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Updated: Jul 20, 2025
Optimized Analysis of In Vivo and In Vitro Hepatic Steatosis
Published on: March 11, 2017
Mitofusin-2 gene polymorphisms and metabolic dysfunction associated fatty liver disease: a case-control study in a
Xiwei Yuan1, Mengmeng Hou1, Yiqi Wang1
1Department of Traditional and Western Medical Hepatology & Hebei Key Laboratory of Mechanism of Liver Fibrosis in Chronic Liver Disease, Third Hospital of Hebei Medical University, Shijiazhuang, China.
Objectives:
Mitofusion-2 (Mfn2) may have a role in mitochondrial oxidative stress and insulin resistance that can promote the development of metabolic dysfunction associated fatty liver disease (MAFLD). This retrospective and case control study aimed to explore the relationships between common Mfn2 single nucleotide polymorphisms (SNPs) and MAFLD in a northern Han Chinese population.
Methods:
Six Mfn2 SNPs (rs2336384, rs873458, rs873457, rs4846085, rs2878677, and rs2236057) were genotyped using the ligase detection reaction in 466 MAFLD patients and 423 healthy controls. Genotype and allele frequencies were calculated, along with haplotype analysis and pairwise linkage disequilibrium.
Results:
The genotype distribution of rs2336384, rs2878677, and rs2236057 among the MAFLD patients showed a significantly different pattern from that of healthy controls. The data showed that an increased risk of MAFLD was significantly correlated with patients carrying the GG genotype of rs2336384, CC genotype of rs873457, TT genotype of rs4846085, TT genotype of rs2878677, and the AA genotype of rs2236057. Moreover, The GGCTTA haplotype was found to be adversely linked with MAFLD by haplotype analysis.
Conclusion:
The current findings suggest a strong link between certain Mfn2 gene polymorphisms and MAFLD.
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